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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SEL1L2 Gene

protein-coding   GIFtS: 39
GCID: GC20M013779

Sel-1 Suppressor Of Lin-12-Like 2 (C. Elegans)

(Previous name: chromosome 20 open reading frame 50)
(Previous symbol: C20orf50)
  Search for SEL1L2
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Sel-1 Suppressor Of Lin-12-Like 2 (C. Elegans)1 2     Protein Sel-1 Homolog 22
C20orf501 2 3     sel-1L22
Suppressor Of Lin-12-Like Protein 22 3     Sel-1L23
Chromosome 20 Open Reading Frame 501     

External Ids:    HGNC: 158971   Entrez Gene: 803432   Ensembl: ENSG000001012517   OMIM: 6142895   UniProtKB: Q5TEA63   

Export aliases for SEL1L2 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for SEL1L2 Gene: 
SEL1L2 (sel-1 suppressor of lin-12-like 2 (C. elegans)) is a protein-coding gene. An important paralog of this gene is SEL1L3.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011387.8  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SEL1L2 gene promoter:
         MIF-1   POU3F2   CBF-C   RORalpha2   CBF-A   CBF-B   CP1C   CP1A   MRF-2   CBF(2)   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SEL1L2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SEL1L2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p12.1   Ensembl cytogenetic band:  20p12.1   HGNC cytogenetic band: 20p12.1

SEL1L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEL1L2 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M013779:  view genomic region     (about GC identifiers)

Start:
13,829,893 bp from pter      End:
13,977,089 bp from pter
Size:
147,197 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SE1L2_HUMAN, Q5TEA6 (See protein sequence)
Recommended Name: Protein sel-1 homolog 2 precursor  
Size: 688 amino acids; 77964 Da
Subcellular location: Membrane; Single-pass type I membrane protein
Sequence caution: Sequence=CAI22078.1; Type=Erroneous gene model prediction; Sequence=CAI22983.1; Type=Erroneous
gene model prediction;
Secondary accessions: B4DXX5
Alternative splicing: 2 isoforms:  Q5TEA6-1   Q5TEA6-2   

Explore the universe of human proteins at neXtProt for SEL1L2: NX_Q5TEA6

Explore proteomics data for SEL1L2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5TEA6

  • SEL1L2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SEL1L2 Protein Expression
    REFSEQ proteins: NP_001258468.1  
    ENSEMBL proteins: 
     ENSP00000418040   ENSP00000284951   ENSP00000394598   ENSP00000367312   ENSP00000420372  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    SEL1L2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR006597 Sel1-like

    Graphical View of Domain Structure for InterPro Entry Q5TEA6

    ProtoNet protein and cluster: Q5TEA6

    UniProtKB/Swiss-Prot: SE1L2_HUMAN, Q5TEA6
    Similarity: Belongs to the sel-1 family
    Similarity: Contains 11 Sel1-like repeats


    SEL1L2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SEL1L2 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEL1L2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SEL1L2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for SEL1L2 (ENSP000002849514) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    ERLEC1ENSP000001851504STRING: ENSP00000185150
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SEL1L2 (SE1L2)

    Search CenterWatch for drugs/clinical trials and news about SEL1L2 / SE1L2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SEL1L2 gene (2 alternative transcripts): 
    NM_025229.1  NM_001271539.1  

    Unigene Cluster for SEL1L2:

    Sel-1 suppressor of lin-12-like 2 (C. elegans)
    Hs.590879  [show with all ESTs]
    Unigene Representative Sequence: BC035741
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000482196 ENST00000475649 ENST00000284951 ENST00000423870(uc010gcf.3 uc002woq.4)
    ENST00000378072(uc010zrl.2) ENST00000486903(uc002wor.3) ENST00000492548
    ENST00000476952 ENST00000473203 ENST00000495437 ENST00000477435
    miRNA
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SEL1L2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SEL1L2
    Clone
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    OriGene clones in human, mouse for SEL1L2 (see all 3)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SEL1L2 (NM_025229)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEL1L2
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SEL1L2
    Sirion Biotech Customized lentivirus for stable overexpression of SEL1L2 
                         Customized lentivirus expression plasmids for stable overexpression of SEL1L2 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SEL1L2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SEL1L2

    Additional mRNA sequence: 

    AK302170.1 AL137678.1 BC035741.1 NR_073206.1 NR_073207.1 

    5 DOTS entries:

    DT.91722982  DT.120824197  DT.91661988  DT.91754114  DT.91661990 

    18 AceView cDNA sequences:

    BG214394 BC035741 AL137678 BM554202 BG217556 CD359317 BF509718 BG188306 
    BG220573 BG191061 BG184754 BG218395 BG204271 BG182541 BG219992 BG216522 
    BG195560 BG203754 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SEL1L2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAACTGGAAA
    SEL1L2 Expression
    About this image


    See SEL1L2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SEL1L2

    SOURCE GeneReport for Unigene cluster: Hs.590879
        SABiosciences Custom PCR Arrays for SEL1L2
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SEL1L2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEL1L2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SEL1L2 gene from 3/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    fruit fly
    (Drosophila melanogaster)
    Insecta Hrd36
    --
    33(a)
    1 → many
    3R(19580345-19584279)
    worm
    (Caenorhabditis elegans)
    Secernentea sel-16
    Protein SEL-1
    35(a)
    1 → many
    V(12560725-12563386)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SKT5(YBL061C)4 Activator of Chs3p (chitin synthase III), recruits more   --   2(107406-105316) 852218  NP_009492.1 
            Species with no ortholog for SEL1L2

    ENSEMBL Gene Tree for SEL1L2 (if available)
    TreeFam Gene Tree for SEL1L2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SEL1L2 gene
    SEL1L32  SEL1L2  
    1 SIMAP similar gene for SEL1L2 using alignment to 4 protein entries:     SE1L2_HUMAN (see all proteins):
    SEL1L

    SEL1L2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2976 SNPs in SEL1L2 are shown (see all 2976)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1831302271,2
    --13829609(+) TTCAGA/GTACGA 3 -- ds50010--------
    rs60746501,2
    H--13829670(+) CATTCC/ATATAG 3 -- ds50014Minor allele frequency- A:0.00NS EA 420
    rs60791971,2
    H--13829733(+) GGGATC/ATGGAT 3 -- ds50014Minor allele frequency- A:0.00NS EA 420
    rs1463514021,2
    --13829780(+) AGTTTA/GTCTGT 3 -- ds50010--------
    rs732592741,2
    C,F--13829792(+) GGAGTC/GAGGAA 3 -- ds50012Minor allele frequency- G:0.13WA 120
    rs1131401231,2
    C,F--13829806(+) CAGTGC/TGTCCT 3 -- ds50012Minor allele frequency- T:0.04NA 122
    rs1397152431,2
    --13829835(+) GTTCTA/GACAAC 3 -- ds50010--------
    rs1146330471,2
    F--13829868(+) CATAAC/TGTGGG 3 -- ds50011Minor allele frequency- T:0.04WA 118
    rs1161249311,2
    C,F--13830025(+) CTGAGC/TGGGAA 3 -- ds50011Minor allele frequency- T:0.09WA 118
    rs1887564791,2
    --13830068(+) TGTTTA/GTTTAG 3 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for SEL1L2 (13829893 - 13977089 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for SEL1L2 (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2663578CNV Deletion23128226
    nsv513537CNV Insertion21212237
    nsv509762CNV Insertion20534489
    esv1588937CNV Insertion17803354
    nsv3296CNV Insertion18451855
    nsv3295CNV Insertion18451855
    esv1553078CNV Insertion17803354
    esv999444CNV Insertion20482838
    esv998605CNV Insertion20482838
    esv1485899CNV Insertion17803354

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SEL1L2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SEL1L2 for disorders           About MalaCards
    OMIM gene information: 614289    OMIM disorders: --


    SEL1L2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SEL1L2
    Human Genome Epidemiology (HuGE) Navigator: SEL1L2 (1 document)

    Export disorders for SEL1L2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SEL1L2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SEL1L2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    2. Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PubMed id 17370265)1, 2 Denis N.J.... Figeys D. (2007)
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    4. Identification of a region within SEL1L protein required for tumour growth inhibition. (PubMed id 14729273)1 Cattaneo M....Biunno I. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    7. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)2 Deloukas P....Rogers J. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 80343 HGNC: 15897 AceView: C20orf50 Ensembl:ENSG00000101251 euGenes: HUgn80343
    ECgene: SEL1L2 H-InvDB: SEL1L2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SEL1L2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SEL1L2 gene:
    Search GeneIP for patents involving SEL1L2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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